citrullinemia type 2, neonatal onset

(redirected from neonatal intrahepatic cholestasis due to citrin deficiency)

citrullinemia type 2, neonatal onset

A neonatal-onset form (OMIM:605814) of citrullinemia type 2 which is characterised by suppression of bile flow, liver fibrosis, low birth weight, growth retardation, hypoproteinaemia and variable liver dysfunction. It is clinically banal and symptoms disappear by one year of age with an appropriate diet. Years to decades later, some individuals develop changes of citrullinemia type 2 with neuropsychiatric symptoms.

Molecular pathology
Caused by defects in SLC25A13, which catalyses the exchange of glutamate with aspartate across the mitochondrial inner membrane.
Full browser ?